Published on 06/30/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.
Kunz Joachim B et al. Annals of hematology 2016 Feb 95(3) 397-402 -
Sickle Cell Trait Screening of Collegiate Athletes: Ethical Reasons for Program Reform.
Ferrari Rosalie et al. Journal of genetic counseling 2015 Dec 24(6) 873-7
Cancer
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FACT SHEET: At Cancer Moonshot Summit, Vice President Biden Announces New Actions to Accelerate Progress Toward Ending Cancer As We Know It
White House, June 28, 2016 -
Use and Costs for Tumor Gene Expression Profiling Panels in the Management of Breast Cancer From 2006 to 2012: Implications for Genomic Test Adoption Among Private Payers.
Roberts Megan C et al. Journal of oncology practice / American Society of Clinical Oncology 2015 Jul 11(4) 273-7 -
Benefit-Risk Summary of Crizotinib for the Treatment of Patients With ROS1 Alteration-Positive, Metastatic Non-Small Cell Lung Cancer.
Kazandjian Dickran et al. The oncologist 2016 Jun -
When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer.
Meiser B et al. European journal of human genetics : EJHG 2016 Jun -
Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer.
Chiba Akiko et al. Annals of surgical oncology 2016 Jun -
The integration of BRCA testing into oncology clinics.
Percival Natalie et al. British journal of nursing (Mark Allen Publishing) 2016 Jun 25(12) 690-4
Chronic Disease
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The Evolution of Genetics: Alzheimer's and Parkinson's Diseases.
Singleton Andrew et al. Neuron 2016 Jun 90(6) 1154-63 -
Genetic variations underlying Alzheimer's disease: evidence from genome-wide association studies and beyond.
Cuyvers Elise et al. The Lancet. Neurology 2016 Jul 15(8) 857-68 -
Genetic variants in Alzheimer disease - molecular and brain network approaches.
Gaiteri Chris et al. Nature reviews. Neurology 2016 Jun
Ethics/Policy/Law
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Data Sharing and Inductive Learning--Toward Healthy Birth, Growth, and Development.
Jumbe N L'ntshotsholé, et al. The New England journal of medicine 2016 6 0. (25) 2415-7 -
Theyre going to CRISPR people. What could possibly go wrong?
S Begeley, StatNews, June 24, 2016 -
Disclosure of incidental findings in cancer genomic research: investigators' perceptions on obligations and barriers.
Kleiderman E et al. Clinical genetics 2015 Oct 88(4) 320-6 -
Gene-therapy trials must proceed with caution.
Nature 2016 0 0. (7609) 590.Nature 2016 0 0. (7609) 590 -
Return of individual genomic research results: what do consent forms tell participants?
Pereira Stacey et al. European journal of human genetics : EJHG 2016 Jun -
Ethical and Legal Challenges Associated with Public Molecular Autopsies.
Moore Quianta L et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 309-18 -
Raising Genomic Citizens: Adolescents and the Return of Secondary Genomic Findings.
Sabatello Maya et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 292-308
Practice
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Will precision medicine improve public health
NCI online webinar debate by Drs S Galea and M. Khoury, June 27, 2016 -
The molecular hallmarks of epigenetic control.
Allis C David, et al. Nature reviews. Genetics 2016 0 0. (8) 487-500 -
Selecting instruments for Mendelian randomization in the wake of genome-wide association studies.
Swerdlow Daniel I et al. International journal of epidemiology 2016 Jun -
The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.
Nguyen M T et al. Clinical genetics 2015 Oct 88(4) 313-9 -
Knowledge, Attitudes, and Practice Regarding Genetic Testing and Genetic Counselors in Jordan: A Population-Based Survey.
Ahram Mamoun et al. Journal of genetic counseling 2015 Dec 24(6) 1001-10 -
Supporting genetics in primary care: investigating how theory can inform professional education.
Wilson Brenda J et al. European journal of human genetics : EJHG 2016 Jun -
Genome variation in precision medicine.
Nature genetics 2016 0 0. (7) 701.Nature genetics 2016 0 0. (7) 701 -
Understanding public reactions to commercialization of biobanks and use of biobank resources.
Nicol Dianne et al. Social science & medicine (1982) 2016 Jun 16279-87 -
Epigenome-wide Association Studies and the Interpretation of Disease -Omics.
Birney Ewan et al. PLoS genetics 2016 Jun 12(6) e1006105 -
A crowdsourcing approach for reusing and meta-analyzing gene expression data.
Shah Naisha et al. Nature biotechnology 2016 Jun -
2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.
Doyle Debra Lochner et al. Journal of genetic counseling 2016 Jun
Heart, Lung, Blood and Sleep Diseases
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These sisters are surviving a dangerous heart ailment together
Washington Post, June 27, 2016 -
The role of mutations in the SCN5A gene in cardiomyopathies.
Zaklyazminskaya Elena et al. Biochimica et biophysica acta 2016 Jul 1863(7 Pt B) 1799-805
Newborn Screening
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Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.
Bleyle Lisa et al. Molecular genetics and metabolism reports 2016 Jun 711-5 -
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.
Wiltink Rachel C et al. European journal of human genetics : EJHG 2016 Jun -
Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory.
Kelly Nicole et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 231-40 -
Informed Consent Should Be a Required Element for Newborn Screening, Even for Disorders with High Benefit-Risk Ratios.
Fost Norman et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2016 Jun 44(2) 241-55 -
Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.
Hörster Friederike et al. JIMD reports 2016 Jun -
Newborn screening for congenital adrenal hyperplasia in New York State.
Pearce Melissa et al. Molecular genetics and metabolism reports 2016 Jun 71-7
Pharmacogenomics
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Codeine Pharmacogenetics as a Proof of Concept for Pediatric Precision Medicine.
Hudak Mark L et al. Pediatrics 2016 Jun -
Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease.
Gammal Roseann S et al. Pediatrics 2016 Jun
Reproductive Health
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Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges.
Sahoo Trilochan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun
News/ Reviews/Comments
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4.50 from Paddington to Genomics - a look at the journey from arsenic and ancient alchemy to modern-day pharmacogenomics,
Genomics Education Programme, June 27, 2016 -
Psychiatric problems common in siblings of people with autism.
by Ann Griswold, Spectrum News, June 23, 2016 -
The ups and downs of data sharing in science.
Nature 2016 0 0. (7608) 435-6.Nature 2016 0 0. (7608) 435-6